ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys) (rs138908576)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000710427 SCV000231848 uncertain significance not provided 2015-05-27 criteria provided, single submitter clinical testing
GeneDx RCV000710427 SCV000621185 likely benign not provided 2020-12-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710427 SCV000840642 uncertain significance not provided 2017-09-26 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765851 SCV000897247 uncertain significance Usher syndrome, type 2C; Febrile seizures, familial, 4 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001155719 SCV001317174 uncertain significance Usher syndrome, type 2C 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001155719 SCV001573388 uncertain significance Usher syndrome, type 2C 2021-04-08 criteria provided, single submitter research The GPR98 c.12349C>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2. Based on this evidence we have classified this variant as Variant of Uncertain Significance.
Invitae RCV000710427 SCV001646522 likely benign not provided 2020-11-16 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.